Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Atp2b4'

514947

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133630411-133728797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133642797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1103 (T1103A)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000112264] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602]

AlphaFold

Q6Q477

Predicted Effect

probably damaging
Transcript: ENSMUST00000048953
AA Change: T1103A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: T1103A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.7e-58	PFAM
Pfam:Hydrolase	460	798	3e-26	PFAM
Pfam:HAD	463	795	7.4e-15	PFAM
Pfam:Hydrolase_like2	510	605	3.6e-17	PFAM
Pfam:Hydrolase_3	756	831	2.7e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1153	1.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112264
AA Change: T1103A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: T1103A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.3e-58	PFAM
Pfam:Hydrolase	460	798	1.2e-26	PFAM
Pfam:HAD	463	795	3.5e-15	PFAM
Pfam:Hydrolase_like2	510	605	4.6e-17	PFAM
Pfam:Hydrolase_3	756	831	9.1e-7	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1104	7.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125659
AA Change: T1103A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: T1103A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.7e-58	PFAM
Pfam:Hydrolase	460	798	3e-26	PFAM
Pfam:HAD	463	795	7.4e-15	PFAM
Pfam:Hydrolase_like2	510	605	3.6e-17	PFAM
Pfam:Hydrolase_3	756	831	2.7e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1153	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140810

Predicted Effect

probably damaging
Transcript: ENSMUST00000143567
AA Change: T1103A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: T1103A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	153	301	6.8e-29	PFAM
Pfam:E1-E2_ATPase	338	455	1.9e-13	PFAM
Pfam:HAD	463	795	1e-21	PFAM
Pfam:Cation_ATPase	509	605	5.8e-17	PFAM
Pfam:Hydrolase	577	798	5e-15	PFAM
Pfam:Hydrolase_3	756	831	6.6e-7	PFAM
Pfam:Cation_ATPase_C	868	1050	4.5e-45	PFAM
Pfam:ATP_Ca_trans_C	1090	1141	3.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165602
AA Change: T1103A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: T1103A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.5e-58	PFAM
Pfam:Hydrolase	460	798	1.4e-26	PFAM
Pfam:HAD	463	795	4.1e-15	PFAM
Pfam:Hydrolase_like2	510	605	5.1e-17	PFAM
Pfam:Hydrolase_3	756	831	1e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.3e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1151	4.8e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility with impaired sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	Het

Other mutations in Atp2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Atp2b4	APN	1	133,659,627 (GRCm39)	missense	probably damaging	1.00
IGL02887:Atp2b4	APN	1	133,656,512 (GRCm39)	missense	probably damaging	1.00
IGL02964:Atp2b4	APN	1	133,658,303 (GRCm39)	missense	probably damaging	1.00
IGL03116:Atp2b4	APN	1	133,656,506 (GRCm39)	missense	possibly damaging	0.95
IGL03227:Atp2b4	APN	1	133,657,445 (GRCm39)	splice site	probably benign
G1patch:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R0018:Atp2b4	UTSW	1	133,645,609 (GRCm39)	missense	probably damaging	1.00
R0018:Atp2b4	UTSW	1	133,645,609 (GRCm39)	missense	probably damaging	1.00
R0279:Atp2b4	UTSW	1	133,657,440 (GRCm39)	splice site	probably benign
R0455:Atp2b4	UTSW	1	133,656,454 (GRCm39)	missense	probably damaging	1.00
R0511:Atp2b4	UTSW	1	133,659,956 (GRCm39)	splice site	probably benign
R0712:Atp2b4	UTSW	1	133,658,216 (GRCm39)	missense	probably damaging	1.00
R1469:Atp2b4	UTSW	1	133,634,677 (GRCm39)	missense	probably damaging	0.97
R1469:Atp2b4	UTSW	1	133,634,677 (GRCm39)	missense	probably damaging	0.97
R1529:Atp2b4	UTSW	1	133,645,726 (GRCm39)	missense	probably damaging	1.00
R1771:Atp2b4	UTSW	1	133,660,131 (GRCm39)	missense	probably damaging	0.96
R1954:Atp2b4	UTSW	1	133,667,730 (GRCm39)	missense	probably damaging	1.00
R2054:Atp2b4	UTSW	1	133,642,907 (GRCm39)	missense	probably benign	0.03
R2056:Atp2b4	UTSW	1	133,654,275 (GRCm39)	missense	probably benign	0.36
R2059:Atp2b4	UTSW	1	133,654,275 (GRCm39)	missense	probably benign	0.36
R2091:Atp2b4	UTSW	1	133,642,968 (GRCm39)	missense	probably benign	0.00
R2263:Atp2b4	UTSW	1	133,654,271 (GRCm39)	missense	probably benign	0.35
R3907:Atp2b4	UTSW	1	133,666,324 (GRCm39)	missense	probably damaging	1.00
R4362:Atp2b4	UTSW	1	133,667,669 (GRCm39)	missense	possibly damaging	0.94
R4756:Atp2b4	UTSW	1	133,667,134 (GRCm39)	missense	probably benign	0.41
R4756:Atp2b4	UTSW	1	133,639,529 (GRCm39)	missense	probably benign	0.00
R4856:Atp2b4	UTSW	1	133,634,518 (GRCm39)	missense	probably benign	0.00
R4886:Atp2b4	UTSW	1	133,634,518 (GRCm39)	missense	probably benign	0.00
R5177:Atp2b4	UTSW	1	133,656,506 (GRCm39)	missense	probably benign	0.00
R5454:Atp2b4	UTSW	1	133,657,610 (GRCm39)	missense	probably damaging	1.00
R5594:Atp2b4	UTSW	1	133,658,248 (GRCm39)	missense	probably damaging	1.00
R5712:Atp2b4	UTSW	1	133,658,278 (GRCm39)	missense	probably damaging	1.00
R6034:Atp2b4	UTSW	1	133,659,645 (GRCm39)	critical splice acceptor site	probably null
R6034:Atp2b4	UTSW	1	133,659,645 (GRCm39)	critical splice acceptor site	probably null
R6078:Atp2b4	UTSW	1	133,629,440 (GRCm39)	small insertion	probably benign
R6079:Atp2b4	UTSW	1	133,629,440 (GRCm39)	small insertion	probably benign
R6244:Atp2b4	UTSW	1	133,654,299 (GRCm39)	missense	probably damaging	1.00
R6483:Atp2b4	UTSW	1	133,657,618 (GRCm39)	missense	possibly damaging	0.68
R6526:Atp2b4	UTSW	1	133,639,467 (GRCm39)	missense	probably damaging	0.99
R6725:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R6801:Atp2b4	UTSW	1	133,655,524 (GRCm39)	missense	probably damaging	0.97
R7548:Atp2b4	UTSW	1	133,629,379 (GRCm39)	makesense	probably null
R7946:Atp2b4	UTSW	1	133,658,320 (GRCm39)	missense	probably damaging	0.96
R8228:Atp2b4	UTSW	1	133,629,459 (GRCm39)	small insertion	probably benign
R8401:Atp2b4	UTSW	1	133,659,574 (GRCm39)	missense	probably damaging	1.00
R8720:Atp2b4	UTSW	1	133,629,465 (GRCm39)	small insertion	probably benign
R8787:Atp2b4	UTSW	1	133,629,485 (GRCm39)	small insertion	probably benign
R8882:Atp2b4	UTSW	1	133,654,193 (GRCm39)	critical splice donor site	probably null
R8966:Atp2b4	UTSW	1	133,666,317 (GRCm39)	missense	probably benign	0.30
R9033:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R9121:Atp2b4	UTSW	1	133,629,463 (GRCm39)	small insertion	probably benign
R9160:Atp2b4	UTSW	1	133,660,143 (GRCm39)	missense	probably benign	0.13
R9366:Atp2b4	UTSW	1	133,642,920 (GRCm39)	missense	probably damaging	1.00
R9592:Atp2b4	UTSW	1	133,659,568 (GRCm39)	missense	probably damaging	1.00
R9657:Atp2b4	UTSW	1	133,656,478 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTAACCACAGCTGAGGAAC -3'
(R):5'- TCAGGTCATCTCTGCAATACC -3'

Sequencing Primer
(F):5'- TGCCGACTAGTCCCTCCTAGAG -3'
(R):5'- CTACCAAGTCTCTGAAGTTCCTGAAG -3'

Posted On

2018-05-04